Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999986832 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:90141355A>CN/A show variant in all transcripts   IGV
HGNC symbol PRDM7
Ensembl transcript ID ENST00000449207
Genbank transcript ID NM_001098173
UniProt peptide Q9NQW5
alteration type single base exchange
alteration region CDS
DNA changes c.270T>G
cDNA.290T>G
g.17126T>G
AA changes D90E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 90
frameshift no
known variant Reference ID: rs12925933
databasehomozygous (C/C)heterozygousallele carriers
1000G5169241440
ExAC20430-809312337
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9550.028
0.0420.026
(flanking)0.0410.025
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased17120wt: 0.9703 / mu: 0.9975 (marginal change - not scored)wt: GACACAGAAGATTCC
mu: GACACAGAAGAGTCC		 CACA|gaag
Donor marginally increased17118wt: 0.9891 / mu: 0.9928 (marginal change - not scored)wt: ATGACACAGAAGATT
mu: ATGACACAGAAGAGT		 GACA|caga
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      90QAIKLQVDDTEDSDEEWTPRQQVK
mutated  all conserved    90QAIKLQVDDTEESDEEWTPRQQV
Ptroglodytes  all identical  ENSPTRG00000008502  90QAIKLQVDDTEDSDEEWTPRQQV
Mmulatta  no alignment  ENSMMUG00000000407  n/a
Fcatus  no alignment  ENSFCAG00000003804  n/a
Mmusculus  all identical  ENSMUSG00000051977  94QAMKPQINDSEDSDEEWTPKQQV
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000009314  n/a
Drerio  no alignment  ENSDARG00000005382  n/a
Dmelanogaster  no homologue    
Celegans  no alignment  T21B10.5  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1479 / 1479
position (AA) of stopcodon in wt / mu AA sequence 493 / 493
position of stopcodon in wt / mu cDNA 1499 / 1499
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 21 / 21
chromosome 16
strand -1
last intron/exon boundary 1254
theoretical NMD boundary in CDS 1183
length of CDS 1479
coding sequence (CDS) position 270
cDNA position
(for ins/del: last normal base / first normal base)		 290
gDNA position
(for ins/del: last normal base / first normal base)		 17126
chromosomal position
(for ins/del: last normal base / first normal base)		 90141355
original gDNA sequence snippet CAGGTGGATGACACAGAAGATTCCGATGAAGAATGGACACC
altered gDNA sequence snippet CAGGTGGATGACACAGAAGAGTCCGATGAAGAATGGACACC
original cDNA sequence snippet CAGGTGGATGACACAGAAGATTCCGATGAAGAATGGACACC
altered cDNA sequence snippet CAGGTGGATGACACAGAAGAGTCCGATGAAGAATGGACACC
wildtype AA sequence MSPERSQEES PEGDTERTER KPMVKDAFKD ISIYFTKEEW AEMGDWEKTR YRNVKMNYNA
LITVGLRATR PAFMCHRRQA IKLQVDDTED SDEEWTPRQQ VKPPWMAFRG EQSKHQKGMP
KASFNNESSL RELSGTPNLL NTSDSEQAQK PVSPPGEAST SGQHSRLKLE LRRKETEGKM
YSLRERKGHA YKEISEPQDD DYLYCEMCQN FFIDSCAAHG PPTFVKDSAV DKGHPNRSAL
SLPPGLRIGP SGIPQAGLGV WNEASDLPLG LHFGPYEGRI TEDEEAANSG YSWLITKGRN
CYEYVDGKDK SSANWMRYVN CARDDEEQNL VAFQYHRQIF YRTCRVIRPG CELLVWSGDE
YGQELGIRSS IEPAESLGQA VNCWSGMGMS MARNWASSGA ASGRKSSWQG ENQSQRSIHV
PHAVWPFQVK NFSVNMWNAI TPLRTSQDHL QENFSNQRIP AQGIRIRSGN ILIHAAVMTK
PKVKRSKKGP NS*
mutated AA sequence MSPERSQEES PEGDTERTER KPMVKDAFKD ISIYFTKEEW AEMGDWEKTR YRNVKMNYNA
LITVGLRATR PAFMCHRRQA IKLQVDDTEE SDEEWTPRQQ VKPPWMAFRG EQSKHQKGMP
KASFNNESSL RELSGTPNLL NTSDSEQAQK PVSPPGEAST SGQHSRLKLE LRRKETEGKM
YSLRERKGHA YKEISEPQDD DYLYCEMCQN FFIDSCAAHG PPTFVKDSAV DKGHPNRSAL
SLPPGLRIGP SGIPQAGLGV WNEASDLPLG LHFGPYEGRI TEDEEAANSG YSWLITKGRN
CYEYVDGKDK SSANWMRYVN CARDDEEQNL VAFQYHRQIF YRTCRVIRPG CELLVWSGDE
YGQELGIRSS IEPAESLGQA VNCWSGMGMS MARNWASSGA ASGRKSSWQG ENQSQRSIHV
PHAVWPFQVK NFSVNMWNAI TPLRTSQDHL QENFSNQRIP AQGIRIRSGN ILIHAAVMTK
PKVKRSKKGP NS*
speed 0.79 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project